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Journal Abstract Search

600 related items for PubMed ID: 18781618

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  • 2. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
    Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M.
    Hum Mutat; 2006 Aug; 27(8):770-7. PubMed ID: 16799921
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  • 3. A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
    Frederic MY, Hamroun D, Faivre L, Boileau C, Jondeau G, Claustres M, Béroud C, Collod-Béroud G.
    Hum Mutat; 2008 Jan; 29(1):33-8. PubMed ID: 17935258
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  • 8. Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype.
    Drera B, Tadini G, Barlati S, Colombi M.
    Clin Genet; 2008 Mar; 73(3):290-3. PubMed ID: 18070134
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  • 17. Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders.
    Gao LG, Luo F, Hui RT, Zhou XL.
    Ageing Res Rev; 2010 Jul; 9(3):363-8. PubMed ID: 19772952
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  • 18. TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.
    Cardoso S, Robertson SP, Daniel PB.
    J Recept Signal Transduct Res; 2012 Jun; 32(3):150-5. PubMed ID: 22414221
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  • 19. The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).
    Lerner-Ellis JP, Aldubayan SH, Hernandez AL, Kelly MA, Stuenkel AJ, Walsh J, Joshi VA.
    Mol Genet Metab; 2014 Jun; 112(2):171-6. PubMed ID: 24793577
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